Submissions for variant NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)

gnomAD frequency: 0.00210  dbSNP: rs200858199

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245911	SCV000302079	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000710825	SCV000718877	benign	not provided	2019-06-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710825	SCV000841130	benign	not provided	2018-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710825	SCV001109088	benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139015	SCV001299121	benign	Alport syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000710825	SCV002496642	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	COL4A3: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710825	SCV004564882	likely benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710825	SCV005259039	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000710825	SCV001955528	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710825	SCV001970021	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001139015	SCV002076439	likely benign	Alport syndrome	2021-02-24	no assertion criteria provided	clinical testing